Abstract
Spondylocostal dysostosis (SCD), in other words Jarcho-Levin syndrome, is a hereditary syndrome presented clinically as short stature. It is characterized by vertebral and costal anomalies. Axial skeletal malformation is detected radiologically and clinically. While sporadic inheritance is seen more often with the multiple organ anomalies in spondylocostal dysostosis, autosomal recessive and dominant inheritance patterns are also known. 4 gene mutations are described for OR-SCD: DLL3, MESP2, LFNG, and HES7. In our study, we evaluated 4 patients who applied to our clinic with curvature of the back, disproportioned short stature, and multiple hospitalizations for respiratory problems. No similar case was found in their family history. Physical examination and radiological diagnostics showed similar vertebral and costal anomalies. The cases were as follows: a 5-month-old girl, 2-year-old boy, 4.5-year-old girl, and a 8-year-old boy. SCD cases presented with short neck, respiratory problems, kyphosis, scoliosis, pectus deformities, and short stature when cervical vertebras were affected. The patients should be further investigated for other possible system anomalies. Genetic consultation should be given to the family and periodical follow-up visits should be done.
Keywords: Short stature, kyphosis, scoliosis, spondylocostal dysostosis
